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Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited
Julia Zhu1, Kirk A J Stephenson1,2, Adrian Dockery3
1Mater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, D07 R2WY Dublin, Ireland.
Insights
Genetic testing for inherited retinal degenerations (IRDs) in children using telegenetics identified causative variants in 85.7% of cases. This enables timely genetic counseling and eligibility for emerging gene therapies.
Area of Science:
- Ophthalmology
- Genetics
- Paediatric Medicine
Background:
- Inherited retinal degenerations (IRDs) are a leading cause of childhood blindness.
- Diagnosis delays are common for paediatric IRDs.
- The SARS-CoV-2-19 pandemic necessitated innovative diagnostic approaches.
Purpose of the Study:
- To implement and evaluate a telegenetics approach for genetic testing in children with suspected IRDs.
- To determine the diagnostic yield of panel-based next-generation sequencing for paediatric IRDs.
- To assess the therapeutic implications of genetic diagnoses in this cohort.
Main Methods:
- A cohort of children with phenotypic evidence of IRD underwent genetic testing.
- Telegenetics was utilized for sample collection and communication during the pandemic.
- Panel-based next-generation sequencing (351 genes) was performed by a commercial laboratory.
Main Results:
- Genetic variants were identified in 60 out of 70 patients (85.7%) from 57 pedigrees.
- A significant proportion of patients (38.3%) were identified as eligible for gene therapy clinical trials.
- Specific genes associated with eligible therapies included RPE65, CEP290, CNGA3, CNGB3, RPGR, and RS1.
Conclusions:
- Early genetic testing via telegenetics is crucial for diagnosing paediatric IRDs.
- This approach facilitates genetic counseling and prepares families for gene therapy trials.
- Systematic genetic testing of paediatric IRD cohorts is vital for understanding therapeutic potential.
Abstract:
Inherited retinal degenerations (IRDs) account for over one third of the underlying causes of blindness in the paediatric population. Patients with IRDs often experience long delays prior to reaching a definitive diagnosis. Children attending a tertiary care paediatric ophthalmology department with phenotypic (i.e., clinical and/or electrophysiologic) evidence suggestive of IRD were contacted for genetic testing during the SARS-CoV-2-19 pandemic using a "telegenetics" approach. Genetic testing approach was panel-based next generation sequencing (351 genes) via a commercial laboratory (Blueprint Genetics, Helsinki, Finland). Of 70 patient samples from 57 pedigrees undergoing genetic testing, a causative genetic variant(s) was detected for 60 patients (85.7%) from 47 (82.5%) pedigrees. Of the 60 genetically resolved IRD patients, 5% (n = 3) are eligible for approved therapies (RPE65) and 38.3% (n = 23) are eligible for clinical trial-based gene therapies including CEP290 (n = 2), CNGA3 (n = 3), CNGB3 (n = 6), RPGR (n = 5) and RS1 (n = 7). The early introduction of genetic testing in the diagnostic/care pathway for children with IRDs is critical for genetic counselling of these families prior to upcoming gene therapy trials. Herein, we describe the pathway used, the clinical and genetic findings, and the therapeutic implications of the first systematic coordinated round of genetic testing of a paediatric IRD cohort in Ireland.
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